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Items: 1 to 20 of 98

1.

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP.

Neurology. 2001 Dec 26;57(12):2295-8.

PMID:
11756613
2.

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

Deschauer M, Hudson G, Müller T, Taylor RW, Chinnery PF, Zierz S.

Neuromuscul Disord. 2005 Apr;15(4):311-5. Epub 2005 Jan 28.

PMID:
15792871
3.
4.

Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

Lewis S, Hutchison W, Thyagarajan D, Dahl HH.

J Neurol Sci. 2002 Sep 15;201(1-2):39-44.

PMID:
12163192
5.

Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.

Liu Y, Wang X, Chen XJ.

Mol Biol Cell. 2015 Jun 1;26(11):1985-94. doi: 10.1091/mbc.E15-01-0030. Epub 2015 Apr 1.

6.

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP.

J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30.

PMID:
18575922
7.

Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina.

El-Khoury R, Sainsard-Chanet A.

Genetics. 2009 Nov;183(3):861-71. doi: 10.1534/genetics.109.107813. Epub 2009 Aug 17.

8.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.

Neurology. 2003 Apr 22;60(8):1354-6.

PMID:
12707443
9.

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM.

Hum Mol Genet. 2004 May 1;13(9):923-34. Epub 2004 Mar 11.

PMID:
15016764
10.

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

Siciliano G, Tessa A, Petrini S, Mancuso M, Bruno C, Grieco GS, Malandrini A, DeFlorio L, Martini B, Federico A, Nappi G, Santorelli FM, Murri L.

Neuromuscul Disord. 2003 Feb;13(2):162-5.

PMID:
12565915
11.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
13.

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.

14.

Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility.

Yin H, Stahl JS, Andrade FH, McMullen CA, Webb-Wood S, Newman NJ, Biousse V, Wallace DC, Pardue MT.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4555-62.

PMID:
16303948
15.

Two families with autosomal dominant progressive external ophthalmoplegia.

Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J.

J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1125-8.

16.

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.

Eur J Hum Genet. 2006 Aug;14(8):917-22. Epub 2006 Apr 26. Erratum in: Eur J Hum Genet. 2007 May;15(5):607. Simon, Melvin [corrected to Simon, Mariella].

17.

Role of adenine nucleotide translocator 1 in mtDNA maintenance.

Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A.

Science. 2000 Aug 4;289(5480):782-5.

18.

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.

Kawamata H, Tiranti V, Magrané J, Chinopoulos C, Manfredi G.

Hum Mol Genet. 2011 Aug 1;20(15):2964-74. doi: 10.1093/hmg/ddr200. Epub 2011 May 17.

19.

Adeno-associated virus-mediated gene transfer of the heart/muscle adenine nucleotide translocator (ANT) in mouse.

Flierl A, Chen Y, Coskun PE, Samulski RJ, Wallace DC.

Gene Ther. 2005 Apr;12(7):570-8.

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